Frontiers in genetics
The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
By Weener M, Hatsenko I, Zolnikova I and 7 others.
Abstract
Purpose
Biallelic EYS variants are one of the frequent causes of autosomal recessive inherited retinal disease worldwide, yet the EYS mutational landscape of Eastern European and Northern Asian populations has not been systematically described. We characterized the molecular and clinical spectrum of EYS-associated retinitis pigmentosa (RP) in this population.